title: Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
abstract: Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear.
authors.affiliation: Department of Medicine, University of Iowa, Iowa City, IA 52242, USA.
authors.forename: T M
authors.initials: TM
authors.lastname: Brennan
authors.forename: D
authors.initials: D
authors.lastname: Landau
authors.forename: H
authors.initials: H
authors.lastname: Shalev
authors.forename: F
authors.initials: F
authors.lastname: Lamb
authors.forename: B C
authors.initials: BC
authors.lastname: Schutte
authors.forename: R Y
authors.initials: RY
authors.lastname: Walder
authors.forename: A L
authors.initials: AL
authors.lastname: Mark
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D001477:Bartter Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D003638:Deafness / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D005819:Genetic Markers